Variant report

Variant	rs2295316
Chromosome Location	chr14:24702789-24702790
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr14:24700737-24702955	HepG2	liver:	n/a	n/a
2	MYC	chr14:24701479-24702926	MCF10A-Er-Src	breast:	n/a	chr14:24701607-24701617 chr14:24702039-24702048
3	TEAD4	chr14:24700683-24703165	HepG2	liver:	n/a	n/a
4	POLR2A	chr14:24700826-24702960	Raji	blood:	n/a	n/a
5	POLR2A	chr14:24700699-24703131	HepG2	liver:	n/a	n/a
6	YY1	chr14:24701159-24702790	GM12892	blood:	n/a	chr14:24702091-24702100 chr14:24701529-24701540 chr14:24701524-24701538 chr14:24702751-24702768
7	RCOR1	chr14:24702712-24703105	K562	blood:	n/a	n/a
8	POLR2A	chr14:24701136-24703242	K562	blood:	n/a	n/a
9	POLR2A	chr14:24701007-24702903	GM18505	blood:	n/a	n/a
10	POLR2A	chr14:24700782-24702888	Hela-S3	cervix:	n/a	n/a
11	POLR2A	chr14:24700878-24702986	HUVEC	blood vessel:	n/a	n/a
12	POLR2A	chr14:24701089-24702879	GM12878	blood:	n/a	n/a
13	NFIC	chr14:24700768-24703039	HepG2	liver:	n/a	n/a
14	MTA3	chr14:24700727-24702963	GM12878	blood:	n/a	n/a
15	POLR2A	chr14:24700698-24703149	ECC-1	luminal epithelium:	n/a	n/a
16	RCOR1	chr14:24702724-24703027	K562	blood:	n/a	n/a
17	POLR2A	chr14:24700829-24709886	GM12891	blood:	n/a	n/a
18	SREBP1	chr14:24700270-24703407	GM12878	blood:	n/a	n/a
19	NFIC	chr14:24700344-24703095	HepG2	liver:	n/a	n/a
20	HEY1	chr14:24700529-24703046	HepG2	liver:	n/a	n/a
21	POLR2A	chr14:24701083-24702906	HUVEC	blood vessel:	n/a	n/a
22	MAX	chr14:24700678-24703036	MCF-7	breast:	n/a	chr14:24701607-24701617 chr14:24700699-24700709 chr14:24700696-24700705 chr14:24702039-24702048
23	POLR2A	chr14:24701075-24702965	ProgFib	skin:	n/a	n/a
24	POLR2A	chr14:24700675-24702965	GM12891	blood:	n/a	n/a
25	MBD4	chr14:24700393-24703151	HepG2	liver:	n/a	n/a
26	POLR2A	chr14:24701097-24702923	HUVEC	blood vessel:	n/a	n/a
27	POLR2A	chr14:24700632-24703023	GM12878	blood:	n/a	n/a
28	POLR2A	chr14:24700601-24703134	GM12892	blood:	n/a	n/a
29	POLR2A	chr14:24701760-24702928	A549	lung:	n/a	n/a
30	EP300	chr14:24702690-24703080	K562	blood:	n/a	n/a
31	POLR2A	chr14:24700875-24702917	GM19193	blood:	n/a	n/a
32	POLR2A	chr14:24701243-24702918	GM12878	blood:	n/a	n/a
33	POLR2A	chr14:24700910-24703107	GM12878	blood:	n/a	n/a
34	POLR2A	chr14:24699754-24707843	MCF10A-Er-Src	breast:	n/a	n/a
35	CHD2	chr14:24702731-24702849	HepG2	liver:	n/a	n/a
36	POLR2A	chr14:24700710-24702918	K562	blood:	n/a	n/a
37	ELF1	chr14:24700601-24702991	MCF-7	breast:	n/a	chr14:24701574-24701583 chr14:24701573-24701584 chr14:24700733-24700744 chr14:24702044-24702055 chr14:24701573-24701584 chr14:24701532-24701541
38	POLR2A	chr14:24702669-24702959	Hela-S3	cervix:	n/a	n/a
39	MYBL2	chr14:24700998-24703562	HepG2	liver:	n/a	n/a
40	POLR2A	chr14:24701176-24702962	PBDE	blood:	n/a	n/a
41	GATA3	chr14:24702704-24703070	SH-SY5Y	brain:	n/a	chr14:24702960-24702967 chr14:24702954-24702966 chr14:24702851-24702858
42	STAT5A	chr14:24701105-24702948	GM12878	blood:	n/a	chr14:24701600-24701612 chr14:24701601-24701613 chr14:24701602-24701614 chr14:24701597-24701609 chr14:24702087-24702099 chr14:24701599-24701611 chr14:24701603-24701615
43	POLR2A	chr14:24701214-24703003	GM12892	blood:	n/a	n/a
44	POLR2A	chr14:24702786-24702890	Hela-S3	cervix:	n/a	n/a
45	POLR2A	chr14:24701230-24702895	GM12891	blood:	n/a	n/a
46	RCOR1	chr14:24702749-24702816	HepG2	liver:	n/a	n/a
47	POLR2A	chr14:24700765-24702924	Hela-S3	cervix:	n/a	n/a
48	GATA2	chr14:24702514-24702984	SH-SY5Y	brain:	n/a	chr14:24702960-24702967 chr14:24702954-24702966 chr14:24702851-24702858
49	POLR2A	chr14:24700645-24702920	HL-60	blood:	n/a	n/a
50	ELF1	chr14:24700683-24702889	HepG2	liver:	n/a	chr14:24701574-24701583 chr14:24701573-24701584 chr14:24700733-24700744 chr14:24702044-24702055 chr14:24701573-24701584 chr14:24701532-24701541

No.	Distal block	Cell Line	Cell type
1	chr14:24700875..24703033-chr14:24898892..24902478,3	MCF-7	breast:
2	chr14:24702582..24706480-chr14:24770203..24773016,3	K562	blood:
3	chr14:24701050..24705855-chr14:24766597..24769956,4	K562	blood:
4	chr14:24563401..24566381-chr14:24701473..24703662,2	MCF-7	breast:
5	chr14:24657518..24659556-chr14:24700250..24703163,3	K562	blood:
6	chr14:24681838..24686459-chr14:24698203..24703209,7	K562	blood:
7	chr14:24605251..24607520-chr14:24700046..24702843,4	MCF-7	breast:
8	chr14:24614827..24617207-chr14:24699385..24702820,4	MCF-7	breast:
9	chr14:24701050..24707093-chr14:24765824..24771703,7	K562	blood:
10	chr14:24582318..24585060-chr14:24701841..24703415,2	K562	blood:
11	chr14:24700052..24703046-chr14:24899147..24901202,2	K562	blood:
12	chr14:24544738..24546942-chr14:24701950..24703617,2	MCF-7	breast:
13	chr14:24527708..24530039-chr14:24700463..24703300,2	K562	blood:
14	chr14:24505359..24507247-chr14:24702110..24704400,2	MCF-7	breast:
15	chr14:24655312..24660662-chr14:24700172..24703885,7	MCF-7	breast:
16	chr14:24663376..24665996-chr14:24700353..24703613,3	K562	blood:
17	chr14:24700462..24703235-chr14:24790000..24792111,3	MCF-7	breast:

Variant related genes	Relation type
NEDD8-MDP1	TF binding region
NEDD8	TF binding region
GMPR2	TF binding region
ENSG00000196943	Chromatin interaction
ENSG00000129535	Chromatin interaction
ENSG00000100897	Chromatin interaction
ENSG00000129467	Chromatin interaction
ENSG00000259522	Chromatin interaction
ENSG00000100441	Chromatin interaction
ENSG00000092098	Chromatin interaction
ENSG00000139899	Chromatin interaction
ENSG00000225766	Chromatin interaction
ENSG00000186648	Chromatin interaction
ENSG00000254692	Chromatin interaction
ENSG00000100926	Chromatin interaction
ENSG00000100889	Chromatin interaction
ENSG00000100884	Chromatin interaction
ENSG00000092010	Chromatin interaction
ENSG00000157379	Chromatin interaction
ENSG00000254505	Chromatin interaction
ENSG00000196497	Chromatin interaction
ENSG00000260669	Chromatin interaction
ENSG00000100911	Chromatin interaction
ENSG00000213920	Chromatin interaction

Extended variants
information (count: 7 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs11629429	0.88[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12050101	0.88[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2295320	0.95[JPT][hapmap];0.88[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs3783441	0.95[JPT][hapmap];0.88[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4982873	0.90[AFR][1000 genomes];0.89[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs8193032	0.82[CHB][hapmap]
rs8193033	0.81[CHB][hapmap]

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:24700000-24703000	Active TSS	iPS-20b Cell Line	embryonic stem cell
2	chr14:24700200-24702800	Active TSS	HUES6 Cell Line	embryonic stem cell
3	chr14:24700200-24702800	Active TSS	HUES64 Cell Line	embryonic stem cell
4	chr14:24700200-24703000	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
5	chr14:24700400-24703000	Active TSS	iPS-15b Cell Line	embryonic stem cell
6	chr14:24700400-24703200	Active TSS	ES-I3 Cell Line	embryonic stem cell
7	chr14:24700400-24703200	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
8	chr14:24700400-24703200	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
9	chr14:24700600-24702800	Active TSS	HUES48 Cell Line	embryonic stem cell
10	chr14:24700600-24703000	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
11	chr14:24700800-24702800	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
12	chr14:24700800-24702800	Active TSS	Aorta	Aorta
13	chr14:24700800-24702800	Active TSS	Psoas Muscle	Psoas
14	chr14:24701000-24702800	Active TSS	ES-WA7 Cell Line	embryonic stem cell
15	chr14:24701000-24702800	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
16	chr14:24701000-24702800	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
17	chr14:24701000-24702800	Active TSS	Gastric	stomach
18	chr14:24701000-24702800	Active TSS	Left Ventricle	heart
19	chr14:24701200-24702800	Active TSS	Esophagus	oesophagus
20	chr14:24701200-24703400	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
21	chr14:24701800-24703000	Flanking Active TSS	Primary hematopoietic stem cells	blood
22	chr14:24701800-24703200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
23	chr14:24702000-24702800	Flanking Active TSS	Primary Natural Killer cells fromperipheralblood	blood
24	chr14:24702000-24703000	Flanking Active TSS	Primary B cells from cord blood	blood
25	chr14:24702000-24703000	Flanking Active TSS	Primary T cells fromperipheralblood	blood
26	chr14:24702000-24703000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
27	chr14:24702000-24703200	Flanking Active TSS	HUVEC	blood vessel
28	chr14:24702000-24703400	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
29	chr14:24702000-24703600	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
30	chr14:24702200-24702800	Flanking Active TSS	Primary monocytes fromperipheralblood	blood
31	chr14:24702200-24702800	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
32	chr14:24702200-24702800	Flanking Active TSS	Primary T killer naive cells fromperipheralblood	blood
33	chr14:24702200-24702800	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
34	chr14:24702200-24702800	Flanking Active TSS	Fetal Muscle Trunk	muscle
35	chr14:24702200-24702800	Flanking Active TSS	Fetal Thymus	thymus
36	chr14:24702200-24703000	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
37	chr14:24702200-24703000	Flanking Active TSS	Primary T cells from cord blood	blood
38	chr14:24702200-24703000	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood
39	chr14:24702200-24703000	Flanking Active TSS	Primary T helper memory cells from peripheral blood 1	blood
40	chr14:24702200-24703000	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
41	chr14:24702200-24703000	Flanking Active TSS	Adipose Nuclei	Adipose
42	chr14:24702200-24703000	Flanking Active TSS	Colonic Mucosa	Colon
43	chr14:24702200-24703000	Flanking Active TSS	Pancreas	Pancrea
44	chr14:24702200-24703000	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
45	chr14:24702200-24703000	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
46	chr14:24702200-24703000	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
47	chr14:24702200-24703000	Flanking Bivalent TSS/Enh	HepG2	liver
48	chr14:24702200-24703000	Flanking Active TSS	HMEC	breast
49	chr14:24702200-24703000	Flanking Active TSS	NH-A	brain
50	chr14:24702200-24703200	Flanking Active TSS	Liver	Liver

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